PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000479974	[[23338357, 23338768], [23340457, 23340543]]	None
ENST00000466681	[[23338818, 23339227], [23340457, 23340636], [23347486, 23347568], [23348974, 23351348]]	[[23338971, 23339227], [23340457, 23340636], [23347486, 23347568], [23348974, 23349162]]
ENST00000287543	[[23338957, 23339227], [23340457, 23340636], [23347486, 23347609]]	None
ENST00000481564	[[23338959, 23339227], [23340457, 23340814]]	None
ENST00000476623	[[23347309, 23347568], [23348974, 23349194]]	None
NM_138446	[[23338939, 23339227], [23340457, 23340636], [23347486, 23347568], [23348974, 23349180]]	[[23338971, 23339227], [23340457, 23340636], [23347486, 23347568], [23348974, 23349162]]

Promoter

Chrom	Start	End	Description
chr7	23338925	23338973	CAGE_peak_1_at_C7orf30_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I023319	23319681	23320900	0.85	[{'connected_gene': 'MALSU1', 'score': 0.34}, {'connected_gene': 'ENSG00000232627', 'score': 0.25}, {'connected_gene': 'GC07M023312', 'score': 0.14}, {'connected_gene': 'IGF2BP3', 'score': 0.1}]
chr7	GH07I023297	23297578	23300997	2.05	[{'connected_gene': 'MALSU1', 'score': 550.77}, {'connected_gene': 'KLHL7-AS1', 'score': 31.92}, {'connected_gene': 'CLK2P1', 'score': 22.23}, {'connected_gene': 'TRA2A', 'score': 19.49}, {'connected_gene': 'CCDC126', 'score': 9.9}, {'connected_gene': 'ENSG00000232627', 'score': 0.2}]
chr7	GH07I023308	23308421	23308824	0.37	[{'connected_gene': 'NUPL2', 'score': 2.51}, {'connected_gene': 'IGF2BP3', 'score': 2.16}, {'connected_gene': 'KLHL7', 'score': 1.34}, {'connected_gene': 'MALSU1', 'score': 0.44}, {'connected_gene': 'ENSG00000232627', 'score': 0.22}]
chr7	GH07I023290	23290426	23290508	0.2	[{'connected_gene': 'IGF2BP3', 'score': 11.95}, {'connected_gene': 'LOC389473', 'score': 10.76}, {'connected_gene': 'MALSU1', 'score': 0.44}, {'connected_gene': 'GPNMB', 'score': 0.23}]
chr7	GH07I023249	23249801	23250000	0.2	[{'connected_gene': 'IGF2BP3', 'score': 10.31}, {'connected_gene': 'LOC389473', 'score': 10.3}, {'connected_gene': 'GPNMB', 'score': 0.39}, {'connected_gene': 'MALSU1', 'score': 0.25}]
chr7	GH07I023250	23249001	23249200	0.2	[{'connected_gene': 'IGF2BP3', 'score': 10.31}, {'connected_gene': 'LOC389473', 'score': 10.3}, {'connected_gene': 'GPNMB', 'score': 0.39}, {'connected_gene': 'MALSU1', 'score': 0.25}]
chr7	GH07I023462	23462744	23475994	2.88	[{'connected_gene': 'IGF2BP3', 'score': 557.78}, {'connected_gene': 'EEF1A1P6', 'score': 11.67}, {'connected_gene': 'TRA2A', 'score': 9.99}, {'connected_gene': 'CCDC126', 'score': 4.71}, {'connected_gene': 'KLHL7-AS1', 'score': 4.25}, {'connected_gene': 'NUPL2', 'score': 3.75}, {'connected_gene': 'MALSU1', 'score': 1.76}, {'connected_gene': 'GC07P023450', 'score': 0.37}]
chr7	GH07I023242	23242442	23242591	0.56	[{'connected_gene': 'GPNMB', 'score': 0.44}, {'connected_gene': 'MALSU1', 'score': 0.22}]
chr7	GH07I023262	23262002	23262131	0.7	[{'connected_gene': 'GPNMB', 'score': 12.08}, {'connected_gene': 'NUPL2', 'score': 10.98}, {'connected_gene': 'IGF2BP3', 'score': 10.72}, {'connected_gene': 'LOC389473', 'score': 10.4}, {'connected_gene': 'MALSU1', 'score': 0.28}]
chr7	GH07I023246	23246122	23248763	1.72	[{'connected_gene': 'GPNMB', 'score': 550.39}, {'connected_gene': 'KLHL7-AS1', 'score': 39.63}, {'connected_gene': 'IGF2BP3', 'score': 10.31}, {'connected_gene': 'LOC389473', 'score': 10.3}, {'connected_gene': 'KLHL7', 'score': 7.29}, {'connected_gene': 'ENSG00000226816', 'score': 7.19}, {'connected_gene': 'MALSU1', 'score': 0.23}]
chr7	GH07I023277	23277482	23277651	0.74	[{'connected_gene': 'KLHL7-AS1', 'score': 11.04}, {'connected_gene': 'MALSU1', 'score': 0.34}, {'connected_gene': 'GPNMB', 'score': 0.26}]
chr7	GH07I023352	23352606	23353925	0.6	[{'connected_gene': 'KLHL7-AS1', 'score': 20.83}, {'connected_gene': 'SNORD65C', 'score': 12.18}, {'connected_gene': 'IGF2BP3', 'score': 12.05}, {'connected_gene': 'LOC389473', 'score': 11.43}, {'connected_gene': 'ENSG00000232627', 'score': 0.39}, {'connected_gene': 'MALSU1', 'score': 0.23}, {'connected_gene': 'GC07M023312', 'score': 0.19}]
chr7	GH07I023345	23345558	23351821	1.79	[{'connected_gene': 'KLHL7-AS1', 'score': 30.39}, {'connected_gene': 'SNORD65C', 'score': 12.17}, {'connected_gene': 'IGF2BP3', 'score': 12.05}, {'connected_gene': 'RNU7-143P', 'score': 11.98}, {'connected_gene': 'LOC541472', 'score': 4.98}, {'connected_gene': 'ENSG00000232627', 'score': 0.37}, {'connected_gene': 'MALSU1', 'score': 0.25}, {'connected_gene': 'GC07M023312', 'score': 0.18}]
chr7	GH07I023356	23356042	23359540	1.32	[{'connected_gene': 'KLHL7-AS1', 'score': 14.52}, {'connected_gene': 'RNU7-143P', 'score': 12.47}, {'connected_gene': 'IGF2BP3', 'score': 11.44}, {'connected_gene': 'LOC389473', 'score': 11.43}, {'connected_gene': 'ENSG00000232627', 'score': 0.44}, {'connected_gene': 'MALSU1', 'score': 0.22}, {'connected_gene': 'GC07M023312', 'score': 0.2}]
chr7	GH07I023291	23291704	23296557	0.9	[{'connected_gene': 'KLHL7-AS1', 'score': 36.48}, {'connected_gene': 'IGF2BP3', 'score': 11.23}, {'connected_gene': 'LOC389473', 'score': 11.22}, {'connected_gene': 'KLHL7', 'score': 7.23}, {'connected_gene': 'MALSU1', 'score': 0.77}, {'connected_gene': 'GPNMB', 'score': 0.22}]
chr7	GH07I023272	23272682	23274306	1.24	[{'connected_gene': 'KLHL7-AS1', 'score': 44.62}, {'connected_gene': 'GPNMB', 'score': 6.29}, {'connected_gene': 'MALSU1', 'score': 0.31}]
chr7	GH07I023243	23242997	23243771	0.66	[{'connected_gene': 'KLHL7-AS1', 'score': 4.79}, {'connected_gene': 'GPNMB', 'score': 0.44}, {'connected_gene': 'MALSU1', 'score': 0.22}]
chr7	GH07I023332	23332328	23337274	1.65	[{'connected_gene': 'KLHL7-AS1', 'score': 23.06}, {'connected_gene': 'GPNMB', 'score': 9.96}, {'connected_gene': 'IGF2BP3', 'score': 1.77}, {'connected_gene': 'ENSG00000232627', 'score': 0.29}, {'connected_gene': 'MALSU1', 'score': 0.28}, {'connected_gene': 'GC07M023312', 'score': 0.16}]